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NM_001318872.2:c.589G>A
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NM_001318872.2:c.589G>A
HGVS Expressions
NG_033003.1:g.112809G>A
NM_001318872.2:c.589G>A
NP_001305801.1:p.Val197Met
NC_000006.12:g.5369159G>A
Associated Genes
Phenylalanyl-tRNA Synthetase 2, Mitochondrial
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Clinvar Clinical Significance
Uncertain Significance
CTGA Clinical Significance
Uncertain Significance
Variant Type
Substitution
dbSNP
149605576
Clinvar
1517423
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
614946.1
Lebanon
1
Uncertain Significance
Combined Oxidative Phosphorylation Deficiency 14
Hotait et al. 2020
Hemizygous mutation in a compound hetero...
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Contributors
Pratibha Nair: 15.12.2020
Edit History
Pratibha Nair: 10.11.2022
Rahila Mir: 22.02.2022
Pratibha Nair: 15.12.2020
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